Incidental Mutation 'R7967:Zmym6'
| ID |
650411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym6
|
| Ensembl Gene |
ENSMUSG00000042408 |
| Gene Name |
zinc finger, MYM-type 6 |
| Synonyms |
9330177P20Rik, Zfp258, D4Wsu24e |
| MMRRC Submission |
046010-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126971176-127018165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127016453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 745
(C745R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046751]
[ENSMUST00000094712]
[ENSMUST00000094713]
[ENSMUST00000106097]
|
| AlphaFold |
Q8BS54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046751
AA Change: C745R
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: C745R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TRASH
|
77 |
113 |
1e-12 |
BLAST |
|
TRASH
|
123 |
163 |
1.18e-1 |
SMART |
|
TRASH
|
197 |
231 |
5.47e3 |
SMART |
|
TRASH
|
241 |
277 |
4.01e1 |
SMART |
|
TRASH
|
349 |
385 |
2.46e1 |
SMART |
|
TRASH
|
391 |
426 |
3.32e2 |
SMART |
|
TRASH
|
434 |
472 |
2.91e-1 |
SMART |
|
TRASH
|
478 |
513 |
9.99e0 |
SMART |
|
low complexity region
|
602 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
656 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094712
|
| SMART Domains |
Protein: ENSMUSP00000092302
Gene: ENSMUSG00000070737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DoxX
|
5 |
103 |
9e-9 |
PFAM |
|
Pfam:DoxX_2
|
7 |
124 |
4.8e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094713
AA Change: C653R
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: C653R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TRASH
|
77 |
113 |
1e-12 |
BLAST |
|
TRASH
|
123 |
163 |
1.18e-1 |
SMART |
|
TRASH
|
197 |
231 |
5.47e3 |
SMART |
|
TRASH
|
262 |
293 |
6.03e2 |
SMART |
|
TRASH
|
299 |
334 |
3.32e2 |
SMART |
|
TRASH
|
342 |
380 |
2.91e-1 |
SMART |
|
TRASH
|
386 |
421 |
9.99e0 |
SMART |
|
low complexity region
|
510 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106097
|
| SMART Domains |
Protein: ENSMUSP00000101703
Gene: ENSMUSG00000070737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DoxX_2
|
27 |
111 |
8.1e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,932,169 (GRCm39) |
H228R |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Atp11b |
C |
A |
3: 35,895,192 (GRCm39) |
T910K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,856,999 (GRCm39) |
L320Q |
probably damaging |
Het |
| C530025M09Rik |
G |
A |
2: 149,672,974 (GRCm39) |
R54C |
unknown |
Het |
| Cfap251 |
G |
A |
5: 123,421,579 (GRCm39) |
R644H |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,494 (GRCm39) |
I530F |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,857,256 (GRCm39) |
V302A |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,798,604 (GRCm39) |
K497E |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Exosc10 |
A |
G |
4: 148,649,121 (GRCm39) |
D337G |
probably damaging |
Het |
| Fabp3 |
A |
T |
4: 130,207,781 (GRCm39) |
H94L |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,501,811 (GRCm39) |
K606* |
probably null |
Het |
| Grm5 |
A |
G |
7: 87,624,569 (GRCm39) |
T379A |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,552,332 (GRCm39) |
Y89F |
probably damaging |
Het |
| Hoxd8 |
T |
C |
2: 74,536,378 (GRCm39) |
S163P |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,614,370 (GRCm39) |
I440N |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,085,461 (GRCm39) |
D2236G |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Klhl31 |
G |
A |
9: 77,557,430 (GRCm39) |
E49K |
probably damaging |
Het |
| Mmp10 |
A |
G |
9: 7,504,116 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mtus2 |
A |
T |
5: 148,014,656 (GRCm39) |
E483V |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,456,119 (GRCm39) |
|
probably null |
Het |
| Or12e13 |
C |
T |
2: 87,663,863 (GRCm39) |
P160L |
possibly damaging |
Het |
| Orc3 |
A |
T |
4: 34,598,645 (GRCm39) |
M187K |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,902 (GRCm39) |
N378S |
probably damaging |
Het |
| Pgm2l1 |
A |
C |
7: 99,910,854 (GRCm39) |
H266P |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 176,102,264 (GRCm39) |
D59E |
probably benign |
Het |
| Ppp2r2c |
A |
G |
5: 37,097,450 (GRCm39) |
D212G |
possibly damaging |
Het |
| Prorp |
G |
A |
12: 55,350,979 (GRCm39) |
G96D |
probably benign |
Het |
| Rccd1 |
G |
A |
7: 79,968,657 (GRCm39) |
S301L |
possibly damaging |
Het |
| Shbg |
T |
A |
11: 69,505,813 (GRCm39) |
D398V |
probably benign |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tecta |
G |
A |
9: 42,289,251 (GRCm39) |
T438M |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,756,023 (GRCm39) |
I89F |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ugt2b36 |
C |
A |
5: 87,214,236 (GRCm39) |
M469I |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,160,830 (GRCm39) |
V445A |
possibly damaging |
Het |
|
| Other mutations in Zmym6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Zmym6
|
APN |
4 |
126,995,742 (GRCm39) |
nonsense |
probably null |
|
|
IGL00486:Zmym6
|
APN |
4 |
127,017,978 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01017:Zmym6
|
APN |
4 |
126,982,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01385:Zmym6
|
APN |
4 |
127,017,899 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01577:Zmym6
|
APN |
4 |
126,999,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01654:Zmym6
|
APN |
4 |
127,017,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01736:Zmym6
|
APN |
4 |
127,002,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01824:Zmym6
|
APN |
4 |
127,002,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01916:Zmym6
|
APN |
4 |
127,017,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01985:Zmym6
|
APN |
4 |
126,994,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02056:Zmym6
|
APN |
4 |
126,997,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Zmym6
|
APN |
4 |
126,972,295 (GRCm39) |
nonsense |
probably null |
|
|
IGL02754:Zmym6
|
APN |
4 |
127,003,764 (GRCm39) |
splice site |
probably benign |
|
|
IGL03344:Zmym6
|
APN |
4 |
127,014,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Zmym6
|
APN |
4 |
126,986,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Zmym6
|
UTSW |
4 |
127,016,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Zmym6
|
UTSW |
4 |
127,002,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0463:Zmym6
|
UTSW |
4 |
127,016,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0538:Zmym6
|
UTSW |
4 |
127,017,162 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0789:Zmym6
|
UTSW |
4 |
127,016,615 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0798:Zmym6
|
UTSW |
4 |
126,997,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1311:Zmym6
|
UTSW |
4 |
127,017,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Zmym6
|
UTSW |
4 |
127,016,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1429:Zmym6
|
UTSW |
4 |
127,017,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1636:Zmym6
|
UTSW |
4 |
127,017,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1666:Zmym6
|
UTSW |
4 |
127,016,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1919:Zmym6
|
UTSW |
4 |
126,997,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Zmym6
|
UTSW |
4 |
126,982,208 (GRCm39) |
nonsense |
probably null |
|
|
R3957:Zmym6
|
UTSW |
4 |
127,017,089 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3978:Zmym6
|
UTSW |
4 |
127,017,348 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4417:Zmym6
|
UTSW |
4 |
126,986,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Zmym6
|
UTSW |
4 |
127,017,009 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4802:Zmym6
|
UTSW |
4 |
127,017,009 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5052:Zmym6
|
UTSW |
4 |
127,017,767 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5105:Zmym6
|
UTSW |
4 |
127,017,551 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5217:Zmym6
|
UTSW |
4 |
126,999,167 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5682:Zmym6
|
UTSW |
4 |
126,998,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Zmym6
|
UTSW |
4 |
126,994,463 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5991:Zmym6
|
UTSW |
4 |
127,002,266 (GRCm39) |
splice site |
probably null |
|
|
R6478:Zmym6
|
UTSW |
4 |
127,017,176 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7014:Zmym6
|
UTSW |
4 |
127,017,337 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Zmym6
|
UTSW |
4 |
127,016,775 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7290:Zmym6
|
UTSW |
4 |
127,017,294 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7371:Zmym6
|
UTSW |
4 |
126,998,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Zmym6
|
UTSW |
4 |
127,016,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8306:Zmym6
|
UTSW |
4 |
127,016,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Zmym6
|
UTSW |
4 |
127,017,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Zmym6
|
UTSW |
4 |
127,017,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9216:Zmym6
|
UTSW |
4 |
127,002,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9271:Zmym6
|
UTSW |
4 |
127,017,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9695:Zmym6
|
UTSW |
4 |
127,016,340 (GRCm39) |
missense |
probably benign |
|
|
X0025:Zmym6
|
UTSW |
4 |
127,016,143 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
X0067:Zmym6
|
UTSW |
4 |
126,998,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zmym6
|
UTSW |
4 |
127,017,590 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCAGACTTACAATGCAGAG -3'
(R):5'- ACCCAATTGTGCTATTAGAAAGAGG -3'
Sequencing Primer
(F):5'- CTGTTCTGGATCAGAGGAAAGTTCAC -3'
(R):5'- GCTATTAGAAAGAGGGATGGTTTTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation